Associated with
Other Information
Genular Protein ID: 1147104961
Symbol: ACY2_HUMAN
Name: Aminoacylase-2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8252036
Title: Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
PubMed ID: 8252036
DOI: 10.1038/ng1093-118
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12706335
Title: Purification and preliminary characterization of brain aspartoacylase.
PubMed ID: 12706335
PubMed ID: 17027983
Title: Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
PubMed ID: 17027983
PubMed ID: 18293939
Title: Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue.
PubMed ID: 18293939
DOI: 10.1021/bi702400x
PubMed ID: 17194761
Title: Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
PubMed ID: 17194761
PubMed ID: 8023850
Title: Canavan disease: mutations among Jewish and non-Jewish patients.
PubMed ID: 8023850
PubMed ID: 7668285
Title: The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
PubMed ID: 7668285
PubMed ID: 7599639
Title: Novel (Cys152 > Arg) missense mutation in an Arab patient with Canavan disease.
PubMed ID: 7599639
PubMed ID: 8659549
Title: Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
PubMed ID: 8659549
PubMed ID: 9452117
Title: Missense mutation (I143T) in a Japanese patient with Canavan disease.
PubMed ID: 9452117
PubMed ID: 10564886
Title: Novel missense mutation (Y231C) in a Turkish patient with Canavan disease.
PubMed ID: 10564886
DOI: 10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o
PubMed ID: 10407784
Title: The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
PubMed ID: 10407784
PubMed ID: 10909858
Title: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
PubMed ID: 10909858
PubMed ID: 12638939
Title: Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
PubMed ID: 12638939
PubMed ID: 12205125
Title: Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
PubMed ID: 12205125
DOI: 10.1136/jmg.39.9.e55
PubMed ID: 24036223
Title: New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
PubMed ID: 24036223
PubMed ID: 28101991
Title: Clinically distinct phenotypes of Canavan disease correlate with residual aspartoacylase enzyme activity.
PubMed ID: 28101991
DOI: 10.1002/humu.23181
Sequence Information:
- Length: 313
- Mass: 35735
- Checksum: 33C0B9B07839E7F5
- Sequence:
MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK LTLNAKSIRC CLH
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.